Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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GenEpi Intranet
PMID
17595314
TITLE
Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample.
ABSTRACT
BACKGROUND NlmCategory: BACKGROUND
Tumour necrosis factor (TNF) is a pleiotropic cytokine with a wide range of immunoregulatory effects. Variation in the promoter region of TNF and the neighbouring lymphotoxin alpha (LTA) gene might be associated with endometriosis.
METHODS NlmCategory: METHODS
We examined the association between endometriosis and common single-nucleotide polymorphisms (SNPs) or haplotypes in the TNF/LTA region in an Australian sample by analysing 26 SNPs in 958 endometriosis cases and 959 unrelated controls. We selected functional SNPs in the coding and the promoter region of the TNF gene and HapMap tagging SNPs and typed them on a Sequenom MassARRAY platform. A key SNP (rs1800630) in the promoter region typed in previous studies did not give reliable results. Therefore, we also examined a statistically identical (r(2) = 1) SNP (siSNP) (rs2844482), identified using the web based program ssSNPer.
RESULTS NlmCategory: RESULTS
Genotype completion rate was 99.5% for SNPs spanning a region of 15.5 kb across the TNF/LTA locus. There was no evidence for association between endometriosis and TNF/LTA SNPs or SNP haplotypes in our case-control study.
CONCLUSIONS NlmCategory: CONCLUSIONS
Our data suggest both TNF and LTA genes are not major susceptibility genes for endometriosis.
DATE PUBLISHED
2007 Sep
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2007/06/26
pubmed 2007/06/28 09:00
medline 2007/12/06 09:00
entrez 2007/06/28 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Zhao ZZ Zhao Zhen Zhen ZZ Molecular Epidemiology, Queensland Institute of Medical Research, 300 Herston Road, Herston, Brisbane, Queensland 4029, Australia. zhen.zhao@qimr.edu.au
Nyholt DR Nyholt Dale R DR
Le L Le Lien L
Thomas S Thomas Shane S
Engwerda C Engwerda Christian C
Randall L Randall Louise L
Treloar SA Treloar Susan A SA
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 22
ISSUE: 9
TITLE: Human reproduction (Oxford, England)
ISOABBREVIATION: Hum. Reprod.
YEAR: 2007
MONTH: Sep
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0268-1161
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Hum Reprod
COUNTRY: England
ISSNLINKING: 0268-1161
NLMUNIQUEID: 8701199
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Australia
Base Sequence
Endometriosis genetics
Female genetics
Gene Frequency genetics
Humans genetics
Lymphotoxin-alpha genetics
Polymorphism, Single Nucleotide genetics
Promoter Regions, Genetic genetics
Tumor Necrosis Factor-alpha genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Lymphotoxin-alpha
0 Tumor Necrosis Factor-alpha
OTHER ID's